nsv442848
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,265
- Publication(s):McCarroll et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 582 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 582 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv442848 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nsv442848 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nsv442848 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1621892 | copy number loss | NA11830 | SNP array | Probe signal intensity | 1 | 169 |
| nssv1621962 | copy number loss | NA07357 | SNP array | Probe signal intensity | 1 | 157 |
| nssv1622237 | copy number loss | NA07000 | SNP array | Probe signal intensity | 1 | 154 |
| nssv1622260 | copy number loss | NA07348 | SNP array | Probe signal intensity | 1 | 165 |
| nssv1622396 | copy number loss | NA12154 | SNP array | Probe signal intensity | 1 | 155 |
| nssv1622515 | copy number loss | NA12872 | SNP array | Probe signal intensity | 1 | 154 |
| nssv1622545 | copy number loss | NA12864 | SNP array | Probe signal intensity | 1 | 145 |
| nssv1622625 | copy number loss | NA10856 | SNP array | Probe signal intensity | 1 | 153 |
| nssv1622763 | copy number loss | NA06994 | SNP array | Probe signal intensity | 1 | 155 |
| nssv1622881 | copy number loss | NA10830 | SNP array | Probe signal intensity | 1 | 152 |
| nssv1622923 | copy number loss | NA12145 | SNP array | Probe signal intensity | 1 | 164 |
| nssv1622935 | copy number loss | NA12814 | SNP array | Probe signal intensity | 1 | 142 |
| nssv1622999 | copy number loss | NA07029 | SNP array | Probe signal intensity | 1 | 147 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1621892 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1621962 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622237 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622260 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622396 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622515 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622545 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622625 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622763 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622881 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622923 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622935 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1622999 | Remapped | Good | NC_000002.12:g.(?_ 212321824)_(212327 088_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,321,824 | 212,327,088 |
| nssv1621892 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1621962 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622237 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622260 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622396 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622515 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622545 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622625 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622763 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622881 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622923 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622935 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1622999 | Remapped | Perfect | NC_000002.11:g.(?_ 213186549)_(213191 812_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 213,186,549 | 213,191,812 |
| nssv1621892 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1621962 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622237 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622260 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622396 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622515 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622545 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622625 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622763 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622881 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622923 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622935 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 | ||
| nssv1622999 | Submitted genomic | NC_000002.9:g.(?_2 13012055)_(2130173 18_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 213,012,055 | 213,017,318 |